A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5175171



Internal ID7920220
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:52002937..52004312hg38UCSC Ensembl
Outerchr6:51867735..51869110hg19UCSC Ensembl
Outerchr6:51975694..51977069hg18UCSC Ensembl
Cytoband6p12.2
Allele length
AssemblyAllele length
hg381376
hg191376
hg181376
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2551556
Supporting Variants
SamplesNA18507
Known GenesPKHD1
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)essv5175171
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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