A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13526555



Internal ID3528371
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:74740757..74745587hg38UCSC Ensembl
Innerchr9:74740784..74745560hg38UCSC Ensembl
Outerchr9:74740730..74745614hg38UCSC Ensembl
chr9:77355673..77360503hg19UCSC Ensembl
Innerchr9:77355700..77360476hg19UCSC Ensembl
Outerchr9:77355646..77360530hg19UCSC Ensembl
Cytoband9q21.13
Allele length
AssemblyAllele length
hg384831
hg194831
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3620710
Supporting Variants
SamplesNA20881
Known GenesTRPM6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13526555
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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