A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10763207



Internal ID765023
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:173932486..173936283hg38UCSC Ensembl
Innerchr2:173932486..173936283hg38UCSC Ensembl
Outerchr2:173932239..173936497hg38UCSC Ensembl
chr2:174797214..174801011hg19UCSC Ensembl
Innerchr2:174797214..174801011hg19UCSC Ensembl
Outerchr2:174796967..174801225hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg383798
hg193798
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3593395
Supporting Variants
SamplesHG03006
Known GenesSP3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10763207
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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