A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657303



Internal ID9923408
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:210111371..210116123hg38UCSC Ensembl
chr1:210284716..210289468hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg384753
hg194753
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6419336, essv5557164, essv5422335, essv6019133, essv6002033, essv5403984, essv5688934, essv5553549, essv6430210, essv6062287, essv5673274, essv5587304, essv5712540, essv6469286, essv6332910
SamplesNA19819, NA19920, NA19448, NA18498, NA19901, NA19462, NA19391, NA19455, NA19236, HG01390, NA19449, HG01375, NA19713, NA19346, NA19431
Known GenesSYT14
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657303
Frequency
Sample Size1151
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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