A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12577421



Internal ID5545059
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:146888813..146899082hg38UCSC Ensembl
Innerchr6:146888818..146899078hg38UCSC Ensembl
Outerchr6:146888809..146899087hg38UCSC Ensembl
chr6:147209949..147220218hg19UCSC Ensembl
Innerchr6:147209954..147220214hg19UCSC Ensembl
Outerchr6:147209945..147220223hg19UCSC Ensembl
Cytoband6q24.3
Allele length
AssemblyAllele length
hg3810270
hg1910270
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3611160
Supporting Variants
SamplesNA19003
Known GenesSTXBP5-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12577421
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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