A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2600122



Internal ID8316994
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:149761954..149763873hg38UCSC Ensembl
Outerchr6:150083090..150085009hg19UCSC Ensembl
Outerchr6:150124783..150126702hg18UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg381920
hg191920
hg181920
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5324182
SamplesNA18507
Known GenesPCMT1
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)esv2600122
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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