A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12848881



Internal ID4825182
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:76385488..76389357hg38UCSC Ensembl
Innerchr7:76385988..76388857hg38UCSC Ensembl
Outerchr7:76384488..76390357hg38UCSC Ensembl
chr7:76014805..76018674hg19UCSC Ensembl
Innerchr7:76015305..76018174hg19UCSC Ensembl
Outerchr7:76013805..76019674hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg383870
hg193870
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3613761
Supporting Variants
SamplesNA12044
Known GenesSRCRB4D
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12848881
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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