A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10506529



Internal ID4033659
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:52686161..52721105hg38UCSC Ensembl
Innerchr2:52686161..52721105hg38UCSC Ensembl
Outerchr2:52685661..52721605hg38UCSC Ensembl
chr2:52913299..52948243hg19UCSC Ensembl
Innerchr2:52913299..52948243hg19UCSC Ensembl
Outerchr2:52912799..52948743hg19UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg3834945
hg1934945
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590796
Supporting Variants
SamplesHG03685
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10506529
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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