A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1065e199



Internal ID22758838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:178959444..178964691hg38UCSC Ensembl
chr5:178386445..178391692hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg385248
hg195248
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2662384, esv2674811, esv2666291
SamplesHG00650, HG00592, HG00671, HG01374, NA18603, HG00449, NA18602, NA18550, HG00448, NA18547, HG00634, NA19062, NA18582, NA19088, HG00590, HG01134, NA18986, NA19002, NA18985, HG00419, NA18638, NA19007, HG00543, HG00557, HG00701, HG00436, HG00583, NA19081, HG00500, HG00708, HG00692, HG00635, NA18548, NA19059, NA19012, HG00476, NA18559, HG00565, NA19085, NA18610, HG00620, NA19078, HG00513, HG00578, HG00421, NA18987, NA18983, HG00628
Known GenesZNF454
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv1065e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss48
Observed Complex0
Frequencyn/a


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