A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671983



Internal ID9938088
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:44552498..44552635hg38UCSC Ensembl
chrX:44411744..44411881hg19UCSC Ensembl
CytobandXp11.3
Allele length
AssemblyAllele length
hg38138
hg19138
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6571396, essv5940892, essv6558939, essv5657490, essv6337550, essv5639734, essv5825117, essv6191160, essv5553496, essv6005984, essv5576121, essv5476910, essv6594195, essv5512496, essv6022546, essv5952836, essv6361484, essv5665680, essv5557972, essv5978560, essv6525670, essv6280695, essv5723724, essv6592574, essv6142280, essv5963908, essv6483658, essv5434245, essv6210946, essv6326330, essv6466541, essv6502454, essv5763221
SamplesHG00315, HG00654, HG00693, HG00501, HG00139, HG00335, HG00534, HG00326, HG00464, HG00543, HG00443, HG00657, HG00436, HG00556, HG00320, HG00584, HG00275, HG00619, HG00479, HG00684, HG00276, HG00254, HG00353, HG00319, HG00620, HG00339, HG00513, NA18636, HG00252, NA18624, HG00345, NA18623, NA18549
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671983
Frequency
Sample Size1151
Observed Gain0
Observed Loss33
Observed Complex0
Frequencyn/a


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