A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678124



Internal ID9597543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:165353679..165357085hg38UCSC Ensembl
Outerchr1:165353308..165357455hg38UCSC Ensembl
Innerchr1:165322916..165326322hg19UCSC Ensembl
Outerchr1:165322545..165326692hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg384148
hg194148
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5935276, essv6265755, essv6506280, essv5471314, essv5633752, essv5439904, essv5981212, essv6503298, essv5982933, essv6404216, essv6525033, essv5611066, essv6122660, essv5950963, essv5667830, essv5632544, essv6263122, essv6542514, essv5728670, essv5407486, essv6152606, essv5551441, essv5683227, essv6244049, essv6577623, essv6090877, essv6086280, essv5939258, essv6070481, essv5553324, essv5551019
SamplesHG00626, HG00403, HG00542, HG00536, HG00524, HG00663, HG00634, HG00610, HG00512, HG00534, HG00705, HG00427, HG00543, HG00560, HG00629, HG00596, HG00428, HG00653, HG00533, HG00708, HG00692, HG00635, HG00625, HG00607, HG00707, HG00672, HG00513, HG00421, HG00656, HG00698, HG00628
Known GenesLMX1A
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678124
Frequency
Sample Size1151
Observed Gain0
Observed Loss31
Observed Complex0
Frequencyn/a


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