A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10520314



Internal ID3383742
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:61854133..61861234hg38UCSC Ensembl
Innerchr2:61854175..61861192hg38UCSC Ensembl
Outerchr2:61854091..61861276hg38UCSC Ensembl
chr2:62081268..62088369hg19UCSC Ensembl
Innerchr2:62081310..62088327hg19UCSC Ensembl
Outerchr2:62081226..62088411hg19UCSC Ensembl
Cytoband2p15
Allele length
AssemblyAllele length
hg387102
hg197102
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591025
Supporting Variants
SamplesHG03028
Known GenesFAM161A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10520314
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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