A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12470089



Internal ID2471905
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:95596147..95611261hg38UCSC Ensembl
Innerchr6:95596147..95611261hg38UCSC Ensembl
Outerchr6:95595793..95611408hg38UCSC Ensembl
chr6:96044023..96059137hg19UCSC Ensembl
Innerchr6:96044023..96059137hg19UCSC Ensembl
Outerchr6:96043669..96059284hg19UCSC Ensembl
Cytoband6q16.1
Allele length
AssemblyAllele length
hg3815115
hg1915115
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610059
Supporting Variants
SamplesNA18536
Known GenesMANEA
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12470089
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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