A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3604086



Internal ID6991116
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:14370413..14371860hg38UCSC Ensembl
Innerchr5:14370427..14371847hg38UCSC Ensembl
Outerchr5:14370400..14371874hg38UCSC Ensembl
chr5:14370522..14371969hg19UCSC Ensembl
Innerchr5:14370536..14371956hg19UCSC Ensembl
Outerchr5:14370509..14371983hg19UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg381448
hg191448
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11818184, essv11818185
SamplesNA18566, HG00421
Known GenesTRIO
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3604086
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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