A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12925388



Internal ID969506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:110215982..110235311hg38UCSC Ensembl
Innerchr7:110216032..110235261hg38UCSC Ensembl
Outerchr7:110215889..110235404hg38UCSC Ensembl
chr7:109856039..109875368hg19UCSC Ensembl
Innerchr7:109856089..109875318hg19UCSC Ensembl
Outerchr7:109855946..109875461hg19UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg3819330
hg1919330
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3614520
Supporting Variants
SamplesHG00596
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12925388
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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