A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677624



Internal ID9943729
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:183405363..183408069hg38UCSC Ensembl
Outerchr4:183404992..183408439hg38UCSC Ensembl
Innerchr4:184326516..184329222hg19UCSC Ensembl
Outerchr4:184326145..184329592hg19UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg383448
hg193448
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5509793, essv5526125, essv6359470, essv6403078, essv6076724, essv5630430, essv6109820, essv5861488, essv5470133, essv5873554, essv6262197, essv5862748, essv5464133, essv5404655, essv6540885, essv6412825, essv6469480, essv6042071, essv5845887, essv6248902, essv5958750, essv6223934, essv5627117, essv5802315, essv6038450, essv5990431, essv6172283, essv6574097, essv6374234, essv5450326, essv5539118, essv5716382, essv6588430, essv6428485, essv6559630, essv5740101, essv6336953, essv6000600, essv5625333, essv6110246, essv6486020
SamplesNA19466, NA19359, NA19355, NA19443, NA19446, NA19379, NA19448, NA19457, NA19313, NA19404, NA19471, NA19445, NA19451, NA19437, NA19455, NA19461, NA19449, NA19453, NA19338, NA19452, NA19395, NA19436, NA19440, NA19390, NA19473, NA19435, NA19444, NA19439, NA19470, NA19311, NA19467, NA19360, NA19438, NA19472, NA19468, NA19474, NA19430, NA19312, NA19463, NA19429, NA19431
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677624
Frequency
Sample Size1151
Observed Gain0
Observed Loss41
Observed Complex0
Frequencyn/a


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