A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10520321



Internal ID2991577
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:61889450..61893138hg38UCSC Ensembl
Innerchr2:61889462..61893126hg38UCSC Ensembl
Outerchr2:61889438..61893150hg38UCSC Ensembl
chr2:62116585..62120273hg19UCSC Ensembl
Innerchr2:62116597..62120261hg19UCSC Ensembl
Outerchr2:62116573..62120285hg19UCSC Ensembl
Cytoband2p15
Allele length
AssemblyAllele length
hg383689
hg193689
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591027
Supporting Variants
SamplesHG02643
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10520321
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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