A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607697



Internal ID6994629
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:177882615..177895364hg38UCSC Ensembl
Innerchr5:177882615..177895364hg38UCSC Ensembl
Outerchr5:177882115..177895864hg38UCSC Ensembl
chr5:177309616..177322365hg19UCSC Ensembl
Innerchr5:177309616..177322365hg19UCSC Ensembl
Outerchr5:177309116..177322865hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3812750
hg1912750
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12145442, essv12145447, essv12145469, essv12145474, essv12145449, essv12145461, essv12145481, essv12145448, essv12145470, essv12145477, essv12145464, essv12145462, essv12145452, essv12145480, essv12145436, essv12145458, essv12145476, essv12145484, essv12145483, essv12145473, essv12145459, essv12145443, essv12145451, essv12145438, essv12145465, essv12145468, essv12145453, essv12145457, essv12145482, essv12145446, essv12145460, essv12145445, essv12145440, essv12145435, essv12145444, essv12145454, essv12145475, essv12145479, essv12145472, essv12145478, essv12145455, essv12145456, essv12145485, essv12145486, essv12145437, essv12145450, essv12145441, essv12145471, essv12145467, essv12145439, essv12145463, essv12145466
SamplesHG03096, NA19700, NA19703, HG03121, HG03115, HG03130, HG03521, HG03295, HG03193, NA19098, HG03478, HG03436, HG01167, HG03091, NA19916, NA19904, HG02562, NA18868, NA19137, HG03195, NA19317, NA18520, HG03048, HG03120, HG02820, HG02582, NA19982, HG03428, HG02014, NA19655, NA18856, NA19113, HG01182, NA18523, NA19395, HG02675, NA19017, HG02557, HG02546, NA19331, HG02611, NA19334, HG03433, HG02941, HG01912, NA19474, NA19185, HG02851, NA18522, HG02006, HG03439, HG03166
Known GenesLOC728554
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607697
Frequency
Sample Size2504
Observed Gain0
Observed Loss52
Observed Complex0
Frequencyn/a


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