A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3622621



Internal ID7009479
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:23871593..23877674hg38UCSC Ensembl
chr10:24160522..24166603hg19UCSC Ensembl
Cytoband10p12.2
Allele length
AssemblyAllele length
hg386082
hg196082
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13717504, essv13717512, essv13717499, essv13717530, essv13717529, essv13717497, essv13717494, essv13717496, essv13717522, essv13717507, essv13717500, essv13717513, essv13717502, essv13717495, essv13717527, essv13717533, essv13717516, essv13717509, essv13717521, essv13717519, essv13717528, essv13717493, essv13717506, essv13717510, essv13717520, essv13717532, essv13717518, essv13717517, essv13717515, essv13717514, essv13717523, essv13717511, essv13717498, essv13717531, essv13717526, essv13717501, essv13717492, essv13717524, essv13717525, essv13717503, essv13717505, essv13717508
SamplesHG00881, NA19703, HG01965, NA18621, NA18592, HG00766, HG02017, HG02016, HG02069, NA19723, NA18574, HG00851, HG02131, HG01932, NA18973, HG00982, HG01595, HG02152, NA19086, HG02253, HG00533, HG02364, NA19000, HG00531, HG04173, HG01921, NA19740, HG01596, HG01589, HG01812, HG01800, NA18643, HG02019, HG00513, HG02373, NA19716, HG01817, HG01464, NA19755, NA19758, HG02020, NA18620
Known GenesKIAA1217
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3622621
Frequency
Sample Size2504
Observed Gain42
Observed Loss0
Observed Complex0
Frequencyn/a


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