A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12947484



Internal ID1701891
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:120888292..120940838hg38UCSC Ensembl
chr7:120528346..120580892hg19UCSC Ensembl
Cytoband7q31.31
Allele length
AssemblyAllele length
hg3852547
hg1952547
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3614811
Supporting Variants
SamplesHG01578
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12947484
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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