A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10530536



Internal ID5236753
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:66350009..66353527hg38UCSC Ensembl
Innerchr2:66350009..66353527hg38UCSC Ensembl
Outerchr2:66349776..66353757hg38UCSC Ensembl
chr2:66577141..66580659hg19UCSC Ensembl
Innerchr2:66577141..66580659hg19UCSC Ensembl
Outerchr2:66576908..66580889hg19UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg383519
hg193519
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591115
Supporting Variants
SamplesNA18628
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10530536
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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