A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10532633



Internal ID5751170
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:67531808..67539088hg38UCSC Ensembl
chr2:67758940..67766220hg19UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg387281
hg197281
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591151
Supporting Variants
SamplesNA19119
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10532633
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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