A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12358426



Internal ID2360242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:54063904..54070022hg38UCSC Ensembl
Innerchr6:54063904..54070022hg38UCSC Ensembl
Outerchr6:54063583..54070419hg38UCSC Ensembl
chr6:53928702..53934820hg19UCSC Ensembl
Innerchr6:53928702..53934820hg19UCSC Ensembl
Outerchr6:53928381..53935217hg19UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg386119
hg196119
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3609042
Supporting Variants
SamplesHG00096
Known GenesMLIP
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12358426
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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