A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10404058



Internal ID4055407
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:7839069..7841233hg38UCSC Ensembl
Innerchr2:7839086..7841217hg38UCSC Ensembl
Outerchr2:7839053..7841250hg38UCSC Ensembl
chr2:7979200..7981364hg19UCSC Ensembl
Innerchr2:7979217..7981348hg19UCSC Ensembl
Outerchr2:7979184..7981381hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg382165
hg192165
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589746
Supporting Variants
SamplesHG03694
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10404058
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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