A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12815819



Internal ID2591131
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:65749070..65761136hg38UCSC Ensembl
chr7:65214057..65226123hg19UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg3812067
hg1912067
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3613478
Supporting Variants
SamplesHG02292
Known GenesCCT6P1, LOC441242, SNORA22
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12815819
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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