A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663283



Internal ID9582702
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:139638011..139639669hg38UCSC Ensembl
chr7:139322757..139324415hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg381659
hg191659
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6212586, essv6157443, essv6271039, essv5792354
SamplesNA19064, NA18961, NA19085, NA19004
Known GenesHIPK2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663283
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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