A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2499472



Internal ID8216344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:73711124..73712668hg38UCSC Ensembl
Outerchr6:74420847..74422391hg19UCSC Ensembl
Outerchr6:74477568..74479112hg18UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg381545
hg191545
hg181545
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5189598
SamplesNA18507
Known GenesCD109
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)esv2499472
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer