A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10415052



Internal ID4421979
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:14925947..14932261hg38UCSC Ensembl
Innerchr2:14925962..14932246hg38UCSC Ensembl
Outerchr2:14925932..14932276hg38UCSC Ensembl
chr2:15066071..15072385hg19UCSC Ensembl
Innerchr2:15066086..15072370hg19UCSC Ensembl
Outerchr2:15066056..15072400hg19UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg386315
hg196315
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589901
Supporting Variants
SamplesHG03937
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10415052
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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