A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2571485



Internal ID1602025
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:63172464..63174006hg38UCSC Ensembl
Outerchr18:60839697..60841239hg19UCSC Ensembl
Outerchr18:58990677..58992219hg18UCSC Ensembl
Cytoband18q21.33
Allele length
AssemblyAllele length
hg381543
hg191543
hg181543
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5353586
SamplesNA18507
Known GenesBCL2
MethodSequencing
AnalysisLarger insertions and deletions are found by looking at variation in mate pair distances in the 2x50 mate pair libraries. These data are included in separate files for each of three coverage values: 2.2x, 4.0x, 5.6x, and 8.4x
PlatformNot specified
CommentsoriginalFile=Yoruban_large_indels_8.4x.gff
ReferenceMcKernan_et_al_2009
Pubmed ID19546169
Accession Number(s)esv2571485
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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