A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15249304



Internal ID795854
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:52161998..52163483hg38UCSC Ensembl
Innerchr15:52162003..52163479hg38UCSC Ensembl
Outerchr15:52161994..52163488hg38UCSC Ensembl
chr15:52454195..52455680hg19UCSC Ensembl
Innerchr15:52454200..52455676hg19UCSC Ensembl
Outerchr15:52454191..52455685hg19UCSC Ensembl
Cytoband15q21.2
Allele length
AssemblyAllele length
hg381486
hg191486
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3636484
Supporting Variants
SamplesHG00378
Known GenesGNB5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15249304
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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