A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12559647



Internal ID2718908
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:134491979..134493113hg38UCSC Ensembl
Innerchr6:134491991..134493102hg38UCSC Ensembl
Outerchr6:134491968..134493125hg38UCSC Ensembl
chr6:134813117..134814251hg19UCSC Ensembl
Innerchr6:134813129..134814240hg19UCSC Ensembl
Outerchr6:134813106..134814263hg19UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg381135
hg191135
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610881
Supporting Variants
SamplesHG02396
Known GenesLINC01010
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12559647
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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