A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10520317



Internal ID1010830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:61881406..61882222hg38UCSC Ensembl
Innerchr2:61881444..61882184hg38UCSC Ensembl
Outerchr2:61881368..61882260hg38UCSC Ensembl
chr2:62108541..62109357hg19UCSC Ensembl
Innerchr2:62108579..62109319hg19UCSC Ensembl
Outerchr2:62108503..62109395hg19UCSC Ensembl
Cytoband2p15
Allele length
AssemblyAllele length
hg38817
hg19817
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591026
Supporting Variants
SamplesHG00631
Known GenesCCT4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10520317
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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