A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12503610



Internal ID2505426
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:110847365..110848319hg38UCSC Ensembl
Innerchr6:110847365..110848319hg38UCSC Ensembl
Outerchr6:110847049..110848599hg38UCSC Ensembl
chr6:111168568..111169522hg19UCSC Ensembl
Innerchr6:111168568..111169522hg19UCSC Ensembl
Outerchr6:111168252..111169802hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg38955
hg19955
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610368
Supporting Variants
SamplesHG01142
Known GenesAMD1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12503610
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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