A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670758



Internal ID9590177
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:86046025..86046529hg38UCSC Ensembl
chr4:86967178..86967682hg19UCSC Ensembl
Cytoband4q21.3
Allele length
AssemblyAllele length
hg38505
hg19505
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6529251, essv5519583, essv6585921, essv6376468, essv6041818, essv5785400, essv5727827, essv5716621, essv5473212, essv5508115, essv6250789, essv6037283, essv6105513, essv5688700, essv5505378, essv5656540, essv6405601, essv6352478, essv5549089, essv6456245, essv5612742, essv5520001, essv5896223, essv5411876, essv6573995, essv6348801, essv6263609, essv6449495, essv5935474, essv5424282, essv6342518, essv5443535, essv5397253, essv6108491, essv6479087, essv6035312, essv6093229, essv6376028, essv6458644, essv5703117, essv5578830, essv5605386
SamplesHG00613, NA18621, HG00537, HG00619, NA19819, HG00614, HG00542, NA18546, HG00683, HG00581, NA18950, NA18632, HG00635, NA19054, NA19390, NA18622, NA18563, NA19088, HG00419, NA18637, NA18973, HG00634, NA18593, HG00662, NA18633, HG00653, NA19002, NA18942, NA18961, NA18606, HG00590, HG00443, NA18567, HG00580, NA18533, NA18548, HG00708, NA18984, NA18549, NA18555, NA18980, NA18553
Known GenesMAPK10
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670758
Frequency
Sample Size1151
Observed Gain0
Observed Loss42
Observed Complex0
Frequencyn/a


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