A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14947449



Internal ID1689972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:27542274..27625731hg38UCSC Ensembl
chr14:28011480..28094937hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg3883458
hg1983458
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3633881
Supporting Variants
SamplesHG01566
Known GenesLINC00645
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14947449
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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