A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14801449



Internal ID3414577
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:77597137..77598056hg38UCSC Ensembl
Innerchr13:77597138..77598056hg38UCSC Ensembl
Outerchr13:77597137..77598057hg38UCSC Ensembl
chr13:78171272..78172191hg19UCSC Ensembl
Innerchr13:78171273..78172191hg19UCSC Ensembl
Outerchr13:78171272..78172192hg19UCSC Ensembl
Cytoband13q22.3
Allele length
AssemblyAllele length
hg38920
hg19920
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3632781
Supporting Variants
SamplesHG03057
Known GenesSCEL
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14801449
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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