A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2549788



Internal ID3338074
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:6142052..6142152hg19UCSC Ensembl
chr12:6012313..6012413hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg19101
hg18101
Variant TypeCNV Deletion
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsessv5169543
SamplesNA18507
Known GenesVWF
Method
Analysis
PlatformAB SOLiD 2BE Sequencing
CommentsoriginalFile=Yoruban_med_del_12_500.gff
ReferenceMcKernan_et_al_2009
Pubmed ID19546169
Accession Number(s)esv2549788
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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