A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2549788



Internal ID1580328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:6032886..6032986hg38UCSC Ensembl
chr12:6142052..6142152hg19UCSC Ensembl
chr12:6012313..6012413hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38101
hg19101
hg18101
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5169543
SamplesNA18507
Known GenesVWF
MethodSequencing
AnalysisThe small_indels files contain insertions and deletions detected using the AB Small indel tool. After individual sequence tags from fragment and 2x25 mate pair data are matched to the reference, insertion of up to 3 bases and deletions of up to 11 bases are reported. Somewhat larger indels (12-500 bp) can be detected in the 2x50 mate pair data and these are included as well (Yoruban_med_ins_04_14.gff, Yoruban_med_ins_15_19.gff, Yoruban_med_del_12_500.gff). Small and medium indel files include a number of name=value attributes as described in the small indel tool manual.
PlatformNot specified
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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