A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3610893



Internal ID6651118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:135287747..135289843hg38UCSC Ensembl
Innerchr6:135287747..135289843hg38UCSC Ensembl
Outerchr6:135287467..135290088hg38UCSC Ensembl
chr6:135608885..135610981hg19UCSC Ensembl
Innerchr6:135608885..135610981hg19UCSC Ensembl
Outerchr6:135608605..135611226hg19UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg382097
hg192097
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12559708, essv12559709, essv12559687, essv12559690, essv12559694, essv12559705, essv12559702, essv12559707, essv12559703, essv12559697, essv12559700, essv12559693, essv12559704, essv12559692, essv12559701, essv12559706, essv12559688, essv12559689, essv12559685, essv12559695, essv12559696, essv12559691, essv12559698, essv12559686, essv12559684, essv12559699
SamplesHG03163, NA19146, HG03160, NA18520, HG02006, NA19678, NA19355, HG03572, HG02981, NA18912, NA19982, NA19917, HG03202, NA19020, HG03442, NA19397, HG00637, HG02941, HG02922, HG02771, HG03028, HG03303, NA18915, HG03246, HG03240, HG03449
Known GenesAHI1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3610893
Frequency
Sample Size2504
Observed Gain0
Observed Loss26
Observed Complex0
Frequencyn/a


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