A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13081622



Internal ID2570980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:7227940..7680412hg38UCSC Ensembl
Innerchr8:7227990..7680362hg38UCSC Ensembl
Outerchr8:7227854..7680498hg38UCSC Ensembl
chr8:7085462..7537934hg19UCSC Ensembl
Innerchr8:7085512..7537884hg19UCSC Ensembl
Outerchr8:7085376..7538020hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38452473
hg19452473
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616114
Supporting Variants
SamplesHG02281
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB109P1B, DEFB4B, FAM66B, FAM90A7P, LINC00965, PRR23D1, PRR23D2, SPAG11B, USP17L1P, USP17L4, ZNF705G
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13081622
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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