A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5201194



Internal ID8292929
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:140934894..140936277hg38UCSC Ensembl
Outerchr5:140314479..140315862hg19UCSC Ensembl
Outerchr5:140294663..140296046hg18UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg381384
hg191384
hg181384
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2505753
Supporting Variants
SamplesNA18507
Known GenesPCDHA1, PCDHA10, PCDHA11, PCDHA12, PCDHA13, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8, PCDHA9, PCDHAC1
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)essv5201194
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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