A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10870263



Internal ID872079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:227365910..227368260hg38UCSC Ensembl
Innerchr2:227365929..227368242hg38UCSC Ensembl
Outerchr2:227365892..227368279hg38UCSC Ensembl
chr2:228230626..228232976hg19UCSC Ensembl
Innerchr2:228230645..228232958hg19UCSC Ensembl
Outerchr2:228230608..228232995hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg382351
hg192351
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3594534
Supporting Variants
SamplesHG01861
Known GenesTM4SF20
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10870263
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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