A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10597900



Internal ID2390877
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:102133988..102139037hg38UCSC Ensembl
Innerchr2:102134018..102139008hg38UCSC Ensembl
Outerchr2:102133959..102139067hg38UCSC Ensembl
chr2:102750448..102755497hg19UCSC Ensembl
Innerchr2:102750478..102755468hg19UCSC Ensembl
Outerchr2:102750419..102755527hg19UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg385050
hg195050
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591783
Supporting Variants
SamplesHG02121
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10597900
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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