A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3598812



Internal ID6972330
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:178062299..178063766hg38UCSC Ensembl
Innerchr3:178062308..178063758hg38UCSC Ensembl
Outerchr3:178062291..178063775hg38UCSC Ensembl
chr3:177780087..177781554hg19UCSC Ensembl
Innerchr3:177780096..177781546hg19UCSC Ensembl
Outerchr3:177780079..177781563hg19UCSC Ensembl
Cytoband3q26.32
Allele length
AssemblyAllele length
hg381468
hg191468
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11238549, essv11238554, essv11238536, essv11238515, essv11238505, essv11238501, essv11238521, essv11238529, essv11238525, essv11238552, essv11238514, essv11238499, essv11238502, essv11238503, essv11238542, essv11238509, essv11238498, essv11238511, essv11238527, essv11238540, essv11238538, essv11238537, essv11238561, essv11238543, essv11238528, essv11238519, essv11238500, essv11238496, essv11238495, essv11238512, essv11238518, essv11238497, essv11238556, essv11238544, essv11238532, essv11238520, essv11238494, essv11238516, essv11238548, essv11238547, essv11238550, essv11238530, essv11238555, essv11238560, essv11238506, essv11238541, essv11238558, essv11238551, essv11238559, essv11238510, essv11238531, essv11238524, essv11238553, essv11238523, essv11238546, essv11238535, essv11238557, essv11238534, essv11238522, essv11238513, essv11238492, essv11238508, essv11238517, essv11238491, essv11238533, essv11238504, essv11238539, essv11238493, essv11238526, essv11238507, essv11238545
SamplesNA20339, HG03548, HG03052, NA19399, HG02433, HG03057, HG03558, HG02870, HG03298, HG03297, NA18870, NA20356, HG03069, NA20359, NA18510, HG03572, NA19201, HG02485, HG03578, NA19138, NA19038, NA19922, HG02562, HG02461, NA19238, HG02502, NA19445, HG03394, HG03270, HG03511, NA19462, NA19347, HG03291, HG01879, HG03457, HG02508, HG02537, HG03301, NA18853, HG02256, HG01890, NA19225, HG03354, HG01956, HG02613, NA19206, NA19019, HG02983, HG02314, NA20362, NA19835, HG03469, NA19818, NA19376, NA18501, NA20348, HG03066, HG03049, NA19474, NA19102, NA19213, HG01883, HG02947, NA18505, NA19316, HG03376, NA18511, HG02284, HG03439, NA19214, HG03166
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3598812
Frequency
Sample Size2504
Observed Gain0
Observed Loss71
Observed Complex0
Frequencyn/a


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