A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15010571



Internal ID6300191
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:51924967..51929601hg38UCSC Ensembl
Innerchr14:51924967..51929601hg38UCSC Ensembl
Outerchr14:51924850..51929717hg38UCSC Ensembl
chr14:52391685..52396319hg19UCSC Ensembl
Innerchr14:52391685..52396319hg19UCSC Ensembl
Outerchr14:52391568..52396435hg19UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg384635
hg194635
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3634510
Supporting Variants
SamplesNA19901
Known GenesGNG2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15010571
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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