A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14777503



Internal ID4779319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:66319329..66325819hg38UCSC Ensembl
Innerchr13:66319329..66325819hg38UCSC Ensembl
Outerchr13:66318921..66326074hg38UCSC Ensembl
chr13:66893461..66899951hg19UCSC Ensembl
Innerchr13:66893461..66899951hg19UCSC Ensembl
Outerchr13:66893053..66900206hg19UCSC Ensembl
Cytoband13q21.32
Allele length
AssemblyAllele length
hg386491
hg196491
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3632505
Supporting Variants
SamplesHG03410
Known GenesPCDH9
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14777503
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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