A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12430254



Internal ID2985848
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:75066139..75073439hg38UCSC Ensembl
Innerchr6:75066139..75073439hg38UCSC Ensembl
Outerchr6:75065958..75073682hg38UCSC Ensembl
chr6:75775855..75783155hg19UCSC Ensembl
Innerchr6:75775855..75783155hg19UCSC Ensembl
Outerchr6:75775674..75783398hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg387301
hg197301
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3609568
Supporting Variants
SamplesHG02635
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12430254
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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