A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10404357



Internal ID2061142
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:9394235..9397838hg38UCSC Ensembl
Innerchr2:9394301..9397773hg38UCSC Ensembl
Outerchr2:9394170..9397904hg38UCSC Ensembl
chr2:9534364..9537967hg19UCSC Ensembl
Innerchr2:9534430..9537902hg19UCSC Ensembl
Outerchr2:9534299..9538033hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg383604
hg193604
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589771
Supporting Variants
SamplesHG01879
Known GenesASAP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10404357
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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