A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657775



Internal ID9923880
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:29694338..30506784hg38UCSC Ensembl
chr1:30167185..30979631hg19UCSC Ensembl
Cytoband1p35.2
Allele length
AssemblyAllele length
hg38812447
hg19812447
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv35e199
Supporting Variantsessv6259413, essv5953541, essv5531597, essv6103343, essv5459183, essv5882214, essv5900767, essv6030401, essv6109029, essv6148226, essv6244922, essv5953165, essv5842677, essv5969023, essv6450576, essv6234780, essv6516725, essv5777480, essv5675071
SamplesNA18861, NA18592, NA18508, NA11931, NA18603, NA18563, NA18498, NA18964, NA19137, NA19238, NA18952, NA18517, NA12763, NA06986, NA19093, NA18505, NA19129, NA18522, NA18965
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657775
Frequency
Sample Size1151
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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