A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12577422



Internal ID3914541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:147002802..147013415hg38UCSC Ensembl
Innerchr6:147002802..147013415hg38UCSC Ensembl
Outerchr6:147002302..147013915hg38UCSC Ensembl
chr6:147323938..147334551hg19UCSC Ensembl
Innerchr6:147323938..147334551hg19UCSC Ensembl
Outerchr6:147323438..147335051hg19UCSC Ensembl
Cytoband6q24.3
Allele length
AssemblyAllele length
hg3810614
hg1910614
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3611161
Supporting Variants
SamplesHG03567
Known GenesSTXBP5-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12577422
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer