A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3638049



Internal ID6678147
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:15977460..15983579hg38UCSC Ensembl
Innerchr16:15977460..15983579hg38UCSC Ensembl
Outerchr16:15977187..15983883hg38UCSC Ensembl
chr16:16071317..16077436hg19UCSC Ensembl
Innerchr16:16071317..16077436hg19UCSC Ensembl
Outerchr16:16071044..16077740hg19UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg386120
hg196120
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15385793, essv15385797, essv15385798, essv15385794, essv15385792, essv15385795, essv15385791, essv15385796
SamplesNA20296, HG03169, NA19175, NA19159, HG03352, NA19099, NA19225, HG02476
Known GenesABCC1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3638049
Frequency
Sample Size2504
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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