A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12718013



Internal ID953536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:30506891..30507462hg38UCSC Ensembl
Innerchr7:30506941..30507412hg38UCSC Ensembl
Outerchr7:30506841..30507512hg38UCSC Ensembl
chr7:30546507..30547078hg19UCSC Ensembl
Innerchr7:30546557..30547028hg19UCSC Ensembl
Outerchr7:30546457..30547128hg19UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg38572
hg19572
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3612710
Supporting Variants
SamplesHG00584
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12718013
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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