A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14702940



Internal ID5707550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:39375724..39377077hg38UCSC Ensembl
Innerchr13:39375725..39377076hg38UCSC Ensembl
Outerchr13:39375723..39377078hg38UCSC Ensembl
chr13:39949861..39951214hg19UCSC Ensembl
Innerchr13:39949862..39951213hg19UCSC Ensembl
Outerchr13:39949860..39951215hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg381354
hg191354
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631832
Supporting Variants
SamplesNA19092
Known GenesLHFP
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14702940
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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