A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3615217



Internal ID6655416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:139638002..139639670hg38UCSC Ensembl
Innerchr7:139638005..139639667hg38UCSC Ensembl
Outerchr7:139637999..139639673hg38UCSC Ensembl
chr7:139322748..139324416hg19UCSC Ensembl
Innerchr7:139322751..139324413hg19UCSC Ensembl
Outerchr7:139322745..139324419hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg381669
hg191669
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12982073, essv12982076, essv12982074, essv12982075
SamplesNA19004, NA19085, NA18961, NA19064
Known GenesHIPK2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3615217
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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