A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12481743



Internal ID4098551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:100560713..100562292hg38UCSC Ensembl
Innerchr6:100560737..100562269hg38UCSC Ensembl
Outerchr6:100560690..100562316hg38UCSC Ensembl
chr6:101008589..101010168hg19UCSC Ensembl
Innerchr6:101008613..101010145hg19UCSC Ensembl
Outerchr6:101008566..101010192hg19UCSC Ensembl
Cytoband6q16.3
Allele length
AssemblyAllele length
hg381580
hg191580
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610145
Supporting Variants
SamplesHG03720
Known GenesASCC3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12481743
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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