A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2617044



Internal ID8680602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:134495715..134497161hg38UCSC Ensembl
Outerchr6:134816853..134818299hg19UCSC Ensembl
Outerchr6:134858546..134859992hg18UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg381447
hg191447
hg181447
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5161932
SamplesNA18507
Known GenesLINC01010
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)esv2617044
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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