A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589502



Internal ID6629791
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:247022931..247023855hg38UCSC Ensembl
Innerchr1:247022931..247023855hg38UCSC Ensembl
Outerchr1:247022622..247024170hg38UCSC Ensembl
chr1:247186233..247187157hg19UCSC Ensembl
Innerchr1:247186233..247187157hg19UCSC Ensembl
Outerchr1:247185924..247187472hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38925
hg19925
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10373394, essv10373406, essv10373412, essv10373420, essv10373436, essv10373392, essv10373404, essv10373407, essv10373389, essv10373427, essv10373418, essv10373405, essv10373385, essv10373403, essv10373434, essv10373432, essv10373442, essv10373410, essv10373441, essv10373435, essv10373388, essv10373401, essv10373433, essv10373396, essv10373400, essv10373387, essv10373425, essv10373413, essv10373390, essv10373408, essv10373421, essv10373443, essv10373419, essv10373429, essv10373399, essv10373414, essv10373439, essv10373424, essv10373416, essv10373398, essv10373426, essv10373409, essv10373415, essv10373391, essv10373431, essv10373438, essv10373430, essv10373393, essv10373423, essv10373422, essv10373397, essv10373437, essv10373386, essv10373444, essv10373440, essv10373402, essv10373395, essv10373428, essv10373417, essv10373411
SamplesNA20281, NA19026, NA19321, HG03351, NA19222, NA19437, HG03342, NA18874, NA18501, NA20346, NA19023, NA18516, HG03571, HG03311, NA19920, HG03048, NA19379, NA18507, NA19108, HG01990, NA18488, HG03378, HG02836, NA20320, NA19239, HG03484, NA19440, HG03052, HG02763, HG03565, NA19036, HG03169, NA19395, NA19172, HG01308, NA19393, HG02594, HG02558, HG03514, HG02343, HG01889, NA19347, HG02511, HG03291, NA19462, HG03115, HG03175, NA20357, NA19025, NA19394, HG03267, HG03367, NA19099, NA19452, HG02465, NA19399, NA18853, NA19204, HG02813, NA19466
Known GenesZNF670-ZNF695
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589502
Frequency
Sample Size2504
Observed Gain0
Observed Loss60
Observed Complex0
Frequencyn/a


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