A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12319801



Internal ID2321617
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:36417112..36423562hg38UCSC Ensembl
Innerchr6:36417121..36423553hg38UCSC Ensembl
Outerchr6:36417103..36423571hg38UCSC Ensembl
chr6:36384889..36391339hg19UCSC Ensembl
Innerchr6:36384898..36391330hg19UCSC Ensembl
Outerchr6:36384880..36391348hg19UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg386451
hg196451
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608703
Supporting Variants
SamplesNA19331
Known GenesPXT1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12319801
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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