A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10598566



Internal ID832828
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:103421028..103433944hg38UCSC Ensembl
Innerchr2:103421052..103433921hg38UCSC Ensembl
Outerchr2:103421005..103433968hg38UCSC Ensembl
chr2:104037486..104050402hg19UCSC Ensembl
Innerchr2:104037510..104050379hg19UCSC Ensembl
Outerchr2:104037463..104050426hg19UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg3812917
hg1912917
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591805
Supporting Variants
SamplesHG00421
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10598566
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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