A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2181n106



Internal ID20161538
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:237691757..237692557hg38UCSC Ensembl
chr2:238600400..238601200hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38801
hg19801
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1126582, nsv1133492
SamplesKWS1, KWS2
Known GenesLRRFIP1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv2181n106
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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