A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12766472



Internal ID2474427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:49235242..49245493hg38UCSC Ensembl
Innerchr7:49235257..49245478hg38UCSC Ensembl
Outerchr7:49235227..49245508hg38UCSC Ensembl
chr7:49274838..49285089hg19UCSC Ensembl
Innerchr7:49274853..49285074hg19UCSC Ensembl
Outerchr7:49274823..49285104hg19UCSC Ensembl
Cytoband7p12.2
Allele length
AssemblyAllele length
hg3810252
hg1910252
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3613107
Supporting Variants
SamplesHG02181
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12766472
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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