A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14906304



Internal ID622475
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:113310386..113324953hg38UCSC Ensembl
Innerchr13:113310386..113324953hg38UCSC Ensembl
Outerchr13:113309886..113325453hg38UCSC Ensembl
chr13:113964701..113979268hg19UCSC Ensembl
Innerchr13:113964701..113979268hg19UCSC Ensembl
Outerchr13:113964201..113979768hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg3814568
hg1914568
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3633598
Supporting Variants
SamplesHG00272
Known GenesGRTP1, LAMP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14906304
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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