A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12855307



Internal ID2996624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:77142736..77145431hg38UCSC Ensembl
Innerchr7:77142783..77145384hg38UCSC Ensembl
Outerchr7:77142689..77145478hg38UCSC Ensembl
chr7:76772053..76774748hg19UCSC Ensembl
Innerchr7:76772100..76774701hg19UCSC Ensembl
Outerchr7:76772006..76774795hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg382696
hg192696
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3613790
Supporting Variants
SamplesHG02645
Known GenesCCDC146
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12855307
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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