A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12715693



Internal ID6040268
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:28970982..28988583hg38UCSC Ensembl
chr7:29010598..29028199hg19UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg3817602
hg1917602
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3612680
Supporting Variants
SamplesNA19440
Known GenesLOC100506497
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12715693
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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