A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12574697



Internal ID1257631
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:143215025..143216190hg38UCSC Ensembl
Innerchr6:143215025..143216190hg38UCSC Ensembl
Outerchr6:143214744..143216447hg38UCSC Ensembl
chr6:143536162..143537327hg19UCSC Ensembl
Innerchr6:143536162..143537327hg19UCSC Ensembl
Outerchr6:143535881..143537584hg19UCSC Ensembl
Cytoband6q24.2
Allele length
AssemblyAllele length
hg381166
hg191166
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3611092
Supporting Variants
SamplesHG01108
Known GenesAIG1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12574697
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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