A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1201e199



Internal ID20124503
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:55674375..56426809hg38UCSC Ensembl
chr7:55742068..56494502hg19UCSC Ensembl
Cytoband7p11.2
Allele length
AssemblyAllele length
hg38752435
hg19752435
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2658203, esv2658869, esv2678087
SamplesHG00236, HG00262, HG00282, NA19785
Known GenesCCT6A, CHCHD2, FKBP9L, GBAS, LOC650226, MRPS17, NUPR1L, PHKG1, PSPH, SEPT14, SNORA15, SUMF2, ZNF713
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv1201e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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