A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10684573



Internal ID5577925
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:137133190..137184863hg38UCSC Ensembl
chr2:137890760..137942433hg19UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg3851674
hg1951674
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3592613
Supporting Variants
SamplesNA19023
Known GenesTHSD7B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10684573
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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