A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669214



Internal ID9588633
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:137251591..137252913hg38UCSC Ensembl
chr7:136936338..136937660hg19UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg381323
hg191323
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5958744, essv5509125, essv5908208, essv5818980, essv5848022, essv6144579, essv5503944, essv5807538, essv5937202, essv6339532, essv5633794, essv5979354, essv5485405, essv6375760, essv5951722, essv5724020, essv5449974, essv6328874, essv5467357, essv6172703, essv5506993
SamplesNA18486, NA19393, NA19443, NA19374, NA19381, NA19373, NA19159, NA19239, NA19437, NA18934, NA18910, NA18566, NA20299, NA18856, NA19257, NA19436, NA19434, NA19380, NA19470, NA19223, NA19430
Known GenesPTN
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669214
Frequency
Sample Size1151
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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