A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12366349



Internal ID3031028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:56391200..56401753hg38UCSC Ensembl
Innerchr6:56391700..56401253hg38UCSC Ensembl
Outerchr6:56390200..56402753hg38UCSC Ensembl
chr6:56255998..56266551hg19UCSC Ensembl
Innerchr6:56256498..56266051hg19UCSC Ensembl
Outerchr6:56254998..56267551hg19UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg3810554
hg1910554
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3609099
Supporting Variants
SamplesHG02667
Known GenesRNU6-71P
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12366349
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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