A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10664751



Internal ID4657892
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:127912500..127919445hg38UCSC Ensembl
Innerchr2:127912539..127919407hg38UCSC Ensembl
Outerchr2:127912462..127919484hg38UCSC Ensembl
chr2:128670074..128677019hg19UCSC Ensembl
Innerchr2:128670113..128676981hg19UCSC Ensembl
Outerchr2:128670036..128677058hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg386946
hg196946
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3592371
Supporting Variants
SamplesHG04186
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10664751
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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