A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671900



Internal ID9938005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:142312931..142345250hg38UCSC Ensembl
chr7:142012754..142045081hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg3832320
hg1932328
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1243e199
Supporting Variantsessv6048143, essv5907503, essv6083128, essv6122046, essv5757943, essv6198299, essv5578581, essv5806324, essv6525340, essv5838022, essv6444470, essv6384561, essv5990123, essv5798967, essv6487558, essv6491105, essv5415566, essv5645570, essv5931969, essv6183873, essv6264317, essv6379829, essv5484492, essv6197608, essv6166027, essv5656130, essv6028135, essv6473713, essv6214715
SamplesNA18502, NA19700, NA20508, NA18596, NA12155, NA18988, HG00271, NA18574, NA18582, HG00232, HG00309, NA18908, NA20755, NA18539, NA12748, HG00133, NA20810, NA19982, NA20542, NA19685, NA18533, NA19712, NA20797, HG00418, NA19779, NA18609, HG00252, NA07000, NA20509
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671900
Frequency
Sample Size1151
Observed Gain0
Observed Loss29
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer