A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676949



Internal ID9943054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:73875146..73875630hg38UCSC Ensembl
Outerchr2:73874989..73875783hg38UCSC Ensembl
Innerchr2:74102273..74102757hg19UCSC Ensembl
Outerchr2:74102116..74102910hg19UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg38795
hg19795
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6306716, essv6202324, essv5458900
SamplesHG00736, NA20534, HG00125
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676949
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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