A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593353



Internal ID6980677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:171953134..171955396hg38UCSC Ensembl
Innerchr2:171953160..171955371hg38UCSC Ensembl
Outerchr2:171953109..171955422hg38UCSC Ensembl
chr2:172809652..172811917hg19UCSC Ensembl
Innerchr2:172809678..172811892hg19UCSC Ensembl
Outerchr2:172809627..172811943hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg382263
hg192266
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10758166, essv10758169, essv10758165, essv10758164, essv10758167, essv10758168
SamplesHG03963, NA20845, HG03714, HG02793, HG04026, HG03955
Known GenesHAT1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593353
Frequency
Sample Size2504
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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