A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676241



Internal ID9942346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:24569252..24574377hg38UCSC Ensembl
chr1:24895743..24900868hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg385126
hg195126
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv31e199
Supporting Variantsessv6494429, essv5875731, essv6553579, essv5748288, essv6370557, essv6433122, essv6020834, essv6551866, essv5771165, essv5779471, essv6565253, essv6554133, essv6345402, essv6213636, essv6073471, essv6023915, essv6139079, essv5489572, essv6011568, essv6379284, essv5662476, essv5412014
SamplesNA18924, NA19466, NA18508, NA19704, NA18486, NA19313, NA18874, NA19235, NA18933, NA18910, HG01390, NA19654, NA19449, NA18853, NA19395, NA19436, NA19834, NA19331, NA19311, NA19711, NA18522, NA18487
Known GenesNCMAP
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676241
Frequency
Sample Size1151
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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