A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3592n106



Internal ID20162949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:74657874..74658874hg38UCSC Ensembl
chr7:74072200..74073200hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg381001
hg191001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1144180, nsv1133660
SamplesKWS2, KWS1
Known GenesGTF2I
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv3592n106
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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