A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10522168



Internal ID6351460
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:62690663..62695016hg38UCSC Ensembl
chr2:62917798..62922151hg19UCSC Ensembl
Cytoband2p15
Allele length
AssemblyAllele length
hg384354
hg194354
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591046
Supporting Variants
SamplesNA20281
Known GenesEHBP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10522168
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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