A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10410397



Internal ID412213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:11701091..11701916hg38UCSC Ensembl
Innerchr2:11701103..11701904hg38UCSC Ensembl
Outerchr2:11701079..11701928hg38UCSC Ensembl
chr2:11841217..11842042hg19UCSC Ensembl
Innerchr2:11841229..11842030hg19UCSC Ensembl
Outerchr2:11841205..11842054hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg38826
hg19826
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589821
Supporting Variants
SamplesNA20753
Known GenesLPIN1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10410397
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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