A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670447



Internal ID9936552
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:24478026..24482832hg38UCSC Ensembl
Outerchr1:24477655..24483202hg38UCSC Ensembl
Innerchr1:24804516..24809322hg19UCSC Ensembl
Outerchr1:24804145..24809692hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg385548
hg195548
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6266555, essv6451545, essv6461066, essv5725222, essv5499710, essv5438808, essv6574503, essv5911074, essv6431983, essv5641460, essv6322013, essv5977901, essv6513308, essv5782178, essv6038566
SamplesHG00403, HG00536, HG00610, HG00422, HG00443, HG00596, HG00428, HG00657, HG00583, HG00613, HG00704, HG00625, HG00662, HG00472, HG00628
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670447
Frequency
Sample Size1151
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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