A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10598567



Internal ID2005696
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:103460185..103461840hg38UCSC Ensembl
Innerchr2:103460204..103461822hg38UCSC Ensembl
Outerchr2:103460167..103461859hg38UCSC Ensembl
chr2:104076643..104078298hg19UCSC Ensembl
Innerchr2:104076662..104078280hg19UCSC Ensembl
Outerchr2:104076625..104078317hg19UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg381656
hg191656
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591806
Supporting Variants
SamplesHG01853
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10598567
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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